Incidental Mutation 'R8697:Alx4'
ID 668760
Institutional Source Beutler Lab
Gene Symbol Alx4
Ensembl Gene ENSMUSG00000040310
Gene Name aristaless-like homeobox 4
Synonyms Aristaless-like 4
MMRRC Submission 068551-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.656) question?
Stock # R8697 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 93472779-93511686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 93505657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 253 (R253Q)
Ref Sequence ENSEMBL: ENSMUSP00000047962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042078] [ENSMUST00000111254] [ENSMUST00000184931]
AlphaFold O35137
Predicted Effect probably damaging
Transcript: ENSMUST00000042078
AA Change: R253Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047962
Gene: ENSMUSG00000040310
AA Change: R253Q

DomainStartEndE-ValueType
low complexity region 91 108 N/A INTRINSIC
HOX 202 264 1.11e-28 SMART
low complexity region 302 319 N/A INTRINSIC
Pfam:OAR 375 393 1.5e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111254
AA Change: R253Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106885
Gene: ENSMUSG00000040310
AA Change: R253Q

DomainStartEndE-ValueType
low complexity region 91 108 N/A INTRINSIC
HOX 202 264 1.11e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184931
SMART Domains Protein: ENSMUSP00000138956
Gene: ENSMUSG00000027198

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Pfam:Exostosin 100 380 1.4e-57 PFAM
Pfam:Glyco_transf_64 456 559 9.5e-31 PFAM
Meta Mutation Damage Score 0.9364 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]
PHENOTYPE: Depending on genetic background mutant mice may show preaxial polydactyly and other skeletal alterations, transitory alopecia, ventral body wall defects and male sterility. Homozygous mice of one allele die prenatally. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Spontaneous(1) Chemically induced(3)
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik C T 1: 161,795,565 (GRCm39) A8T probably benign Het
Acacb T C 5: 114,351,441 (GRCm39) V1130A probably damaging Het
Ackr1 A G 1: 173,159,775 (GRCm39) F248S probably damaging Het
Ap3b2 T C 7: 81,122,783 (GRCm39) I485V possibly damaging Het
Aqp7 T C 4: 41,045,305 (GRCm39) E25G probably damaging Het
Cacna1g T C 11: 94,307,524 (GRCm39) N1753D probably benign Het
Cacna2d1 T A 5: 16,570,865 (GRCm39) N1063K possibly damaging Het
Cad T C 5: 31,231,945 (GRCm39) V1801A probably benign Het
Ccdc171 T C 4: 83,600,577 (GRCm39) W868R probably damaging Het
Cecr2 T C 6: 120,710,779 (GRCm39) Y165H probably damaging Het
Clip4 G T 17: 72,163,270 (GRCm39) G614V possibly damaging Het
Ctnnal1 T A 4: 56,838,986 (GRCm39) M236L probably damaging Het
Ctps1 T C 4: 120,399,947 (GRCm39) D470G probably benign Het
Dmwd A C 7: 18,812,113 (GRCm39) Q189P probably damaging Het
Dnah17 A G 11: 117,976,985 (GRCm39) I1869T possibly damaging Het
Eepd1 A G 9: 25,497,998 (GRCm39) N361S probably benign Het
Ephb6 C T 6: 41,591,157 (GRCm39) H105Y probably damaging Het
Fkbp15 A T 4: 62,239,295 (GRCm39) Y603* probably null Het
Flt3 T C 5: 147,294,811 (GRCm39) Y420C possibly damaging Het
Frem2 T A 3: 53,433,249 (GRCm39) T2692S probably damaging Het
Gna12 T A 5: 140,771,200 (GRCm39) R157S probably benign Het
Gsdmc A T 15: 63,651,883 (GRCm39) S243T probably benign Het
Hectd1 A G 12: 51,819,320 (GRCm39) probably benign Het
Hoxd11 G A 2: 74,513,013 (GRCm39) G93R unknown Het
Hydin A G 8: 111,259,515 (GRCm39) I2496V probably benign Het
Igsf10 A G 3: 59,226,308 (GRCm39) I2455T probably benign Het
Ilvbl A T 10: 78,419,196 (GRCm39) R482* probably null Het
Itpr1 A G 6: 108,500,327 (GRCm39) Y2640C probably damaging Het
Kif20a C G 18: 34,761,584 (GRCm39) Q326E probably benign Het
Lamp1 A T 8: 13,224,448 (GRCm39) M371L possibly damaging Het
Lcn6 A G 2: 25,567,166 (GRCm39) N56D probably benign Het
Map3k10 A G 7: 27,362,784 (GRCm39) V434A probably benign Het
Mdga1 T C 17: 30,065,615 (GRCm39) N331S probably damaging Het
Mndal C A 1: 173,700,558 (GRCm39) E138* probably null Het
Morc3 T C 16: 93,667,908 (GRCm39) V762A probably benign Het
Ngef A T 1: 87,417,459 (GRCm39) F279Y probably damaging Het
Or10ac1 A G 6: 42,515,629 (GRCm39) V109A probably damaging Het
Or5m13b A T 2: 85,754,200 (GRCm39) K196I possibly damaging Het
Padi4 GGAGCTCCTGA GGA 4: 140,485,230 (GRCm39) probably null Het
Pcdhb4 G A 18: 37,441,832 (GRCm39) V381M probably benign Het
Ppm1d T C 11: 85,227,986 (GRCm39) Y301H possibly damaging Het
Rasgrf1 A G 9: 89,877,055 (GRCm39) T807A probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Sipa1l2 T C 8: 126,208,855 (GRCm39) K518E probably damaging Het
Skic3 A G 13: 76,328,274 (GRCm39) S1441G probably damaging Het
Slc52a3 A G 2: 151,846,396 (GRCm39) D119G probably damaging Het
Srsf4 C T 4: 131,628,042 (GRCm39) H379Y unknown Het
Ssr1 G T 13: 38,167,425 (GRCm39) S246* probably null Het
Tars2 C T 3: 95,653,374 (GRCm39) E509K possibly damaging Het
Tepsin G T 11: 119,988,354 (GRCm39) Y34* probably null Het
Tmtc2 A G 10: 105,205,831 (GRCm39) I488T probably damaging Het
Trgc2 A T 13: 19,491,514 (GRCm39) M69K Het
Ttn A G 2: 76,575,120 (GRCm39) W25258R probably damaging Het
Utp14b T C 1: 78,644,244 (GRCm39) M714T probably benign Het
Vwa3b T A 1: 37,115,461 (GRCm39) H308Q probably benign Het
Washc2 A G 6: 116,206,220 (GRCm39) D480G probably benign Het
Xcl1 C T 1: 164,763,008 (GRCm39) V18I unknown Het
Zcchc2 C A 1: 105,958,494 (GRCm39) N988K probably damaging Het
Other mutations in Alx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01872:Alx4 APN 2 93,507,818 (GRCm39) missense probably benign 0.10
goofy UTSW 2 93,505,714 (GRCm39) missense probably damaging 1.00
Luxoid UTSW 2 93,505,657 (GRCm39) missense probably damaging 1.00
PIT4519001:Alx4 UTSW 2 93,505,773 (GRCm39) missense probably benign 0.00
R0367:Alx4 UTSW 2 93,498,953 (GRCm39) missense probably damaging 1.00
R0436:Alx4 UTSW 2 93,498,702 (GRCm39) nonsense probably null
R0864:Alx4 UTSW 2 93,473,200 (GRCm39) missense probably damaging 1.00
R1913:Alx4 UTSW 2 93,505,732 (GRCm39) missense probably damaging 1.00
R3712:Alx4 UTSW 2 93,473,134 (GRCm39) missense possibly damaging 0.87
R4619:Alx4 UTSW 2 93,473,106 (GRCm39) missense probably damaging 1.00
R5018:Alx4 UTSW 2 93,507,764 (GRCm39) missense probably damaging 0.99
R5227:Alx4 UTSW 2 93,507,725 (GRCm39) missense probably damaging 1.00
R6505:Alx4 UTSW 2 93,498,904 (GRCm39) missense probably damaging 1.00
R7173:Alx4 UTSW 2 93,473,202 (GRCm39) missense possibly damaging 0.82
R7792:Alx4 UTSW 2 93,473,056 (GRCm39) missense probably damaging 1.00
R8209:Alx4 UTSW 2 93,505,696 (GRCm39) missense possibly damaging 0.68
R8424:Alx4 UTSW 2 93,507,814 (GRCm39) missense probably benign
R8884:Alx4 UTSW 2 93,473,355 (GRCm39) missense possibly damaging 0.69
R9218:Alx4 UTSW 2 93,473,172 (GRCm39) missense possibly damaging 0.78
R9674:Alx4 UTSW 2 93,507,858 (GRCm39) missense probably damaging 1.00
Z1177:Alx4 UTSW 2 93,473,001 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TATTGGCAGCCTTCCCAAC -3'
(R):5'- CCCTGCATCATCTCAGGTCTAG -3'

Sequencing Primer
(F):5'- TTCCCAACTCTGACAATTCTACATAG -3'
(R):5'- CATCATCTCAGGTCTAGGGTCAGAG -3'
Posted On 2021-04-30